TY - JOUR
T1 - MLIP-Associated Myopathy
T2 - A Case Report and Review of the Literature
AU - Al Amrani, Fatema
AU - Al-Thihli, Khalid
AU - Narayanappa, Gayathri
AU - Al-Maawali, Almundher
N1 - Funding Information:
FINANCIAL DISCLOSURE There is no financial disclosure for this project.
Publisher Copyright:
© 2023 - IOS Press. All rights reserved.
PY - 2023/3/7
Y1 - 2023/3/7
N2 - Background: Muscular A-type lamin-interacting protein (MLIP) has a regulatory role in myoblast differentiation and organization of myonuclear positioning in skeletal muscle. It is ubiquitously expressed but abundantly in cardiac, skeletal, and smooth muscles. Recently, two studies confirmed the causation of biallelic pathogenic variants in the MLIP gene of a novel myopathy phenotype. Objective: Description of the phenotypic spectrum and features of MLIP-related myopathy. Methods: report a patient with biallelic variants in MLIP gene with the clinical features, and histomorphological findings of MLIP-related myopathy and provide a literature review of the previously reported 12 patients. Results: MLIP-related myopathy is characterized by episodes of rhabdomyolysis, myalgia triggered by mild to moderate exercise, mild muscle weakness, and sometimes cardiac involvement characterized by cardiomyopathy and cardiac rhythm abnormalities. Conclusions: This report reviews and extends the clinical features of a novel myopathy caused by biallelic pathogenic variants in the MLIP gene.
AB - Background: Muscular A-type lamin-interacting protein (MLIP) has a regulatory role in myoblast differentiation and organization of myonuclear positioning in skeletal muscle. It is ubiquitously expressed but abundantly in cardiac, skeletal, and smooth muscles. Recently, two studies confirmed the causation of biallelic pathogenic variants in the MLIP gene of a novel myopathy phenotype. Objective: Description of the phenotypic spectrum and features of MLIP-related myopathy. Methods: report a patient with biallelic variants in MLIP gene with the clinical features, and histomorphological findings of MLIP-related myopathy and provide a literature review of the previously reported 12 patients. Results: MLIP-related myopathy is characterized by episodes of rhabdomyolysis, myalgia triggered by mild to moderate exercise, mild muscle weakness, and sometimes cardiac involvement characterized by cardiomyopathy and cardiac rhythm abnormalities. Conclusions: This report reviews and extends the clinical features of a novel myopathy caused by biallelic pathogenic variants in the MLIP gene.
KW - MLIP
KW - cardiomyopathy
KW - hyperCKemia
KW - myopathy
KW - rhabdomyolysis
KW - Muscle, Skeletal/pathology
KW - Muscle Proteins
KW - Humans
KW - Myalgia
KW - Lamins
KW - Muscular Diseases/genetics
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UR - https://www.mendeley.com/catalogue/b423f83e-0753-387c-8fba-d31d97805bfc/
U2 - 10.3233/jnd-221520
DO - 10.3233/jnd-221520
M3 - Article
C2 - 36641683
AN - SCOPUS:85150079336
SN - 2214-3599
VL - 10
SP - 293
EP - 299
JO - Journal of Neuromuscular Diseases
JF - Journal of Neuromuscular Diseases
IS - 2
ER -